SRD5A2

steroid 5 alpha-reductase 2
OMIM: 607306, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green SRD5A2 in Differences in sex development

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 4.6
Latest signed off version: v4.5 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • Eligibility statement prior genetic testing
  • UKGTN
Phenotypes
  • Pseudovaginal perineoscrotal hypospadias 264600
Green SRD5A2 in Fetal anomalies


Version 4.1
Latest signed off version: v4.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE Additional Gene List
  • Expert Review Green
Phenotypes
  • Pseudovaginal perineoscrotal hypospadias 264600
Green SRD5A2 in Severe Paediatric Disorders


Version 1.184

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Pseudovaginal perineoscrotal hypospadias, 264600